Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002221 | HP:0002221 | Absent axillary hair | 0 | APOE CL E G H | 348 | 613 | OMIM:269600 | Sea-Blue histiocyte disease | . | | | 39 | | |
HP:0002221 | HP:0002221 | Absent axillary hair | 0 | AR CL E G H | 367 | 644 | ORPHA:99429 | Complete androgen insensitivity syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0002221 | HP:0002221 | Absent axillary hair | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040283 - Occasional | | | 53 | | |
HP:0002221 | HP:0002221 | Absent axillary hair | 0 | EPS8L3 CL E G H | 79574 | 21297 | OMIM:612841 | Hypotrichosis 5 | . | | | | | |
HP:0002221 | HP:0002221 | Absent axillary hair | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | | | | 199 | | |
HP:0002221 | HP:0002221 | Absent axillary hair | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | . | | | 56 | | |
HP:0002221 | HP:0002221 | Absent axillary hair | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | | | | 56 | | |
HP:0002221 | HP:0002221 | Absent axillary hair | 0 | HR CL E G H | 55806 | 5172 | OMIM:203655 | Alopecia universalis congenita | | | | 106 | | |
HP:0002221 | HP:0002221 | Absent axillary hair | 0 | ITGB4 CL E G H | 3691 | 6158 | OMIM:619816 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A | | | | 124 | | |
HP:0002221 | HP:0002221 | Absent axillary hair | 0 | LSS CL E G H | 4047 | 6708 | OMIM:618275 | Hypotrichosis 14 | | | | 2 | | |
HP:0002221 | HP:0002221 | Absent axillary hair | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | . | | | | | |
HP:0002221 | HP:0002221 | Absent axillary hair | 0 | SNRPE CL E G H | 6635 | 11161 | OMIM:615059 | Hypotrichosis 11 | . | | | 2 | | |
HP:0002221 | HP:0002221 | Absent axillary hair | 0 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | HP:0040281 - Very frequent | | | 100 | | |
HP:0002221 | HP:0002221 | Absent axillary hair | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | . | | | 17 | | |